I41M (p.Ile41Met) variant of NBN (Nibrin)
I41M (p.Ile41Met) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
I41M (p.Ile41Met) variant details
- p.Ile41Met
- rs887413615
- ClinGen CA371663095
- ClinVar RCV001976614
- Ensembl rs887413615
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.88
- MetaLR 0.20
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)